Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.22992968G>ACA401776606RBBP8c.1141G>A (p.Asp381Asn)
c.319G>A (p.Asp107Asn)
c.847G>A (p.Asp283Asn)
18g.22992968G>CCA401776607RBBP8c.1141G>C (p.Asp381His)
c.319G>C (p.Asp107His)
c.847G>C (p.Asp283His)
18g.22992968G>TCA401776608RBBP8c.1141G>T (p.Asp381Tyr)
c.319G>T (p.Asp107Tyr)
c.847G>T (p.Asp283Tyr)
18g.22992969A=CA2289916217RBBP8c.1142A= (p.Asp381=)
c.320A= (p.Asp107=)
c.848A= (p.Asp283=)
18g.22992969A>CCA401776615RBBP8c.1142A>C (p.Asp381Ala)
c.320A>C (p.Asp107Ala)
c.848A>C (p.Asp283Ala)
 gnomAD v4
18g.22992969A>GCA401776611RBBP8c.1142A>G (p.Asp381Gly)
c.320A>G (p.Asp107Gly)
c.848A>G (p.Asp283Gly)
 dbSNP gnomAD v4
18g.22992969A>TCA401776612RBBP8c.1142A>T (p.Asp381Val)
c.320A>T (p.Asp107Val)
c.848A>T (p.Asp283Val)
 gnomAD v4
18g.22992970T>ACA401776617RBBP8c.1143T>A (p.Asp381Glu)
c.321T>A (p.Asp107Glu)
c.849T>A (p.Asp283Glu)
18g.22992970T>CCA503521166RBBP8c.1143T>C (p.Asp381=)
c.321T>C (p.Asp107=)
c.849T>C (p.Asp283=)
18g.22992970T>GCA401776619RBBP8c.1143T>G (p.Asp381Glu)
c.321T>G (p.Asp107Glu)
c.849T>G (p.Asp283Glu)
18g.22992971A>CCA401776622RBBP8c.1144A>C (p.Ser382Arg)
c.322A>C (p.Ser108Arg)
c.850A>C (p.Ser284Arg)
18g.22992971A>GCA401776625RBBP8c.1144A>G (p.Ser382Gly)
c.322A>G (p.Ser108Gly)
c.850A>G (p.Ser284Gly)
 gnomAD v4
18g.22992971A>TCA401776627RBBP8c.1144A>T (p.Ser382Cys)
c.322A>T (p.Ser108Cys)
c.850A>T (p.Ser284Cys)
18g.22992972G>ACA401776630RBBP8c.1145G>A (p.Ser382Asn)
c.323G>A (p.Ser108Asn)
c.851G>A (p.Ser284Asn)
18g.22992972G>CCA401776635RBBP8c.1145G>C (p.Ser382Thr)
c.323G>C (p.Ser108Thr)
c.851G>C (p.Ser284Thr)
18g.22992972G>TCA401776633RBBP8c.1145G>T (p.Ser382Ile)
c.323G>T (p.Ser108Ile)
c.851G>T (p.Ser284Ile)
18g.22992973T>ACA401776636RBBP8c.1146T>A (p.Ser382Arg)
c.324T>A (p.Ser108Arg)
c.852T>A (p.Ser284Arg)
18g.22992973T>CCA503521172RBBP8c.1146T>C (p.Ser382=)
c.324T>C (p.Ser108=)
c.852T>C (p.Ser284=)
18g.22992973T>GCA401776638RBBP8c.1146T>G (p.Ser382Arg)
c.324T>G (p.Ser108Arg)
c.852T>G (p.Ser284Arg)
18g.22992974G>ACA8910026RBBP8c.1147G>A (p.Ala383Thr)
c.325G>A (p.Ala109Thr)
c.853G>A (p.Ala285Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992974G>CCA401776641RBBP8c.1147G>C (p.Ala383Pro)
c.325G>C (p.Ala109Pro)
c.853G>C (p.Ala285Pro)
18g.22992974G=CA2289916219RBBP8c.1147G= (p.Ala383=)
c.325G= (p.Ala109=)
c.853G= (p.Ala285=)
18g.22992974G>TCA401776644RBBP8c.1147G>T (p.Ala383Ser)
c.325G>T (p.Ala109Ser)
c.853G>T (p.Ala285Ser)
 gnomAD v4 COSMIC COSMIC
18g.22992975C>ACA401776647RBBP8c.1148C>A (p.Ala383Asp)
c.326C>A (p.Ala109Asp)
c.854C>A (p.Ala285Asp)
18g.22992975C>GCA401776650RBBP8c.1148C>G (p.Ala383Gly)
c.326C>G (p.Ala109Gly)
c.854C>G (p.Ala285Gly)
 gnomAD v4
18g.22992975C>TCA401776651RBBP8c.1148C>T (p.Ala383Val)
c.326C>T (p.Ala109Val)
c.854C>T (p.Ala285Val)
 gnomAD v4
18g.22992976C>ACA503521180RBBP8c.1149C>A (p.Ala383=)
c.327C>A (p.Ala109=)
c.855C>A (p.Ala285=)
18g.22992976C=CA2289916223RBBP8c.1149C= (p.Ala383=)
c.327C= (p.Ala109=)
c.855C= (p.Ala285=)
18g.22992976C>GCA503521182RBBP8c.1149C>G (p.Ala383=)
c.327C>G (p.Ala109=)
c.855C>G (p.Ala285=)
 dbSNP gnomAD v3 gnomAD v4
18g.22992976C>TCA503521184RBBP8c.1149C>T (p.Ala383=)
c.327C>T (p.Ala109=)
c.855C>T (p.Ala285=)
18g.22992977C>ACA401776653RBBP8c.1150C>A (p.Leu384Ile)
c.328C>A (p.Leu110Ile)
c.856C>A (p.Leu286Ile)
18g.22992977C>GCA401776655RBBP8c.1150C>G (p.Leu384Val)
c.328C>G (p.Leu110Val)
c.856C>G (p.Leu286Val)
18g.22992977C>TCA401776658RBBP8c.1150C>T (p.Leu384Phe)
c.328C>T (p.Leu110Phe)
c.856C>T (p.Leu286Phe)
18g.22992978T>ACA401776659RBBP8c.1151T>A (p.Leu384His)
c.329T>A (p.Leu110His)
c.857T>A (p.Leu286His)
18g.22992978T>CCA401776662RBBP8c.1151T>C (p.Leu384Pro)
c.329T>C (p.Leu110Pro)
c.857T>C (p.Leu286Pro)
18g.22992978T>GCA401776660RBBP8c.1151T>G (p.Leu384Arg)
c.329T>G (p.Leu110Arg)
c.857T>G (p.Leu286Arg)
18g.22992979T>ACA503521186RBBP8c.1152T>A (p.Leu384=)
c.330T>A (p.Leu110=)
c.858T>A (p.Leu286=)
18g.22992979T>CCA503521187RBBP8c.1152T>C (p.Leu384=)
c.330T>C (p.Leu110=)
c.858T>C (p.Leu286=)
18g.22992979T>GCA503521189RBBP8c.1152T>G (p.Leu384=)
c.330T>G (p.Leu110=)
c.858T>G (p.Leu286=)
18g.22992980T>ACA401776664RBBP8c.1153T>A (p.Phe385Ile)
c.331T>A (p.Phe111Ile)
c.859T>A (p.Phe287Ile)
18g.22992980T>CCA401776665RBBP8c.1153T>C (p.Phe385Leu)
c.331T>C (p.Phe111Leu)
c.859T>C (p.Phe287Leu)
18g.22992980T>GCA401776667RBBP8c.1153T>G (p.Phe385Val)
c.331T>G (p.Phe111Val)
c.859T>G (p.Phe287Val)
 gnomAD v4
18g.22992981T>ACA401776670RBBP8c.1154T>A (p.Phe385Tyr)
c.332T>A (p.Phe111Tyr)
c.860T>A (p.Phe287Tyr)
18g.22992981T>CCA401776672RBBP8c.1154T>C (p.Phe385Ser)
c.332T>C (p.Phe111Ser)
c.860T>C (p.Phe287Ser)
18g.22992981T>GCA401776675RBBP8c.1154T>G (p.Phe385Cys)
c.332T>G (p.Phe111Cys)
c.860T>G (p.Phe287Cys)
18g.22992982C>ACA401776677RBBP8c.1155C>A (p.Phe385Leu)
c.333C>A (p.Phe111Leu)
c.861C>A (p.Phe287Leu)
18g.22992982C>GCA401776680RBBP8c.1155C>G (p.Phe385Leu)
c.333C>G (p.Phe111Leu)
c.861C>G (p.Phe287Leu)
18g.22992982C>TCA503520895RBBP8c.1155C>T (p.Phe385=)
c.333C>T (p.Phe111=)
c.861C>T (p.Phe287=)
 gnomAD v4
18g.22992983A=CA2289916236RBBP8c.1156A= (p.Thr386=)
c.334A= (p.Thr112=)
c.862A= (p.Thr288=)
18g.22992983A>CCA401776681RBBP8c.1156A>C (p.Thr386Pro)
c.334A>C (p.Thr112Pro)
c.862A>C (p.Thr288Pro)
 dbSNP gnomAD v2 gnomAD v4
18g.22992983A>GCA401776682RBBP8c.1156A>G (p.Thr386Ala)
c.334A>G (p.Thr112Ala)
c.862A>G (p.Thr288Ala)
18g.22992983A>TCA401776684RBBP8c.1156A>T (p.Thr386Ser)
c.334A>T (p.Thr112Ser)
c.862A>T (p.Thr288Ser)
18g.22992984C>ACA401776689RBBP8c.1157C>A (p.Thr386Lys)
c.335C>A (p.Thr112Lys)
c.863C>A (p.Thr288Lys)
18g.22992984C>GCA401776686RBBP8c.1157C>G (p.Thr386Arg)
c.335C>G (p.Thr112Arg)
c.863C>G (p.Thr288Arg)
18g.22992984C>TCA401776685RBBP8c.1157C>T (p.Thr386Ile)
c.335C>T (p.Thr112Ile)
c.863C>T (p.Thr288Ile)
18g.22992985A>CCA503520896RBBP8c.1158A>C (p.Thr386=)
c.336A>C (p.Thr112=)
c.864A>C (p.Thr288=)
18g.22992985A>GCA503520897RBBP8c.1158A>G (p.Thr386=)
c.336A>G (p.Thr112=)
c.864A>G (p.Thr288=)
18g.22992985A>TCA503520898RBBP8c.1158A>T (p.Thr386=)
c.336A>T (p.Thr112=)
c.864A>T (p.Thr288=)
18g.22992986C>ACA401776691RBBP8c.1159C>A (p.His387Asn)
c.337C>A (p.His113Asn)
c.865C>A (p.His289Asn)
18g.22992986C=CA2289916240RBBP8c.1159C= (p.His387=)
c.337C= (p.His113=)
c.865C= (p.His289=)
18g.22992986C>GCA401776692RBBP8c.1159C>G (p.His387Asp)
c.337C>G (p.His113Asp)
c.865C>G (p.His289Asp)
18g.22992986C>TCA8910027RBBP8c.1159C>T (p.His387Tyr)
c.337C>T (p.His113Tyr)
c.865C>T (p.His289Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22992987A=CA2289916242RBBP8c.1160A= (p.His387=)
c.338A= (p.His113=)
c.866A= (p.His289=)
18g.22992987A>CCA401776695RBBP8c.1160A>C (p.His387Pro)
c.338A>C (p.His113Pro)
c.866A>C (p.His289Pro)
18g.22992987A>GCA401776698RBBP8c.1160A>G (p.His387Arg)
c.338A>G (p.His113Arg)
c.866A>G (p.His289Arg)
 dbSNP
18g.22992987A>TCA401776699RBBP8c.1160A>T (p.His387Leu)
c.338A>T (p.His113Leu)
c.866A>T (p.His289Leu)
18g.22992988T>ACA401776701RBBP8c.1161T>A (p.His387Gln)
c.339T>A (p.His113Gln)
c.867T>A (p.His289Gln)
18g.22992988T>CCA503520899RBBP8c.1161T>C (p.His387=)
c.339T>C (p.His113=)
c.867T>C (p.His289=)
18g.22992988T>GCA401776703RBBP8c.1161T>G (p.His387Gln)
c.339T>G (p.His113Gln)
c.867T>G (p.His289Gln)
18g.22992988_22992990delinsTCACA2289916247RBBP8c.1161_1163delinsTCA (p.His387=)
c.339_341delinsTCA (p.His113=)
c.867_869delinsTCA (p.His289=)
18g.22992989_22992997dupCA2641247341RBBP8c.1162_1170dup (p.Leu390_Gly391insHisSerLeu)
c.340_348dup (p.Leu116_Gly117insHisSerLeu)
c.868_876dup (p.Leu292_Gly293insHisSerLeu)
 gnomAD v4
18g.22992989C>ACA401776705RBBP8c.1162C>A (p.His388Asn)
c.340C>A (p.His114Asn)
c.868C>A (p.His290Asn)
 dbSNP
18g.22992989C=CA2289916251RBBP8c.1162C= (p.His388=)
c.340C= (p.His114=)
c.868C= (p.His290=)
18g.22992989C>GCA401776707RBBP8c.1162C>G (p.His388Asp)
c.340C>G (p.His114Asp)
c.868C>G (p.His290Asp)
 gnomAD v4
18g.22992989C>TCA401776708RBBP8c.1162C>T (p.His388Tyr)
c.340C>T (p.His114Tyr)
c.868C>T (p.His290Tyr)
 gnomAD v4
18g.22992991_22992992delCA297050841RBBP8c.1164_1165del (p.His388GlnfsTer5)
c.342_343del (p.His114GlnfsTer5)
c.870_871del (p.His290GlnfsTer5)
 dbSNP
18g.22992990A>CCA401776714RBBP8c.1163A>C (p.His388Pro)
c.341A>C (p.His114Pro)
c.869A>C (p.His290Pro)
18g.22992990A>GCA401776716RBBP8c.1163A>G (p.His388Arg)
c.341A>G (p.His114Arg)
c.869A>G (p.His290Arg)
18g.22992990A>TCA401776712RBBP8c.1163A>T (p.His388Leu)
c.341A>T (p.His114Leu)
c.869A>T (p.His290Leu)
18g.22992991C>ACA401776721RBBP8c.1164C>A (p.His388Gln)
c.342C>A (p.His114Gln)
c.870C>A (p.His290Gln)
18g.22992991C>GCA401776718RBBP8c.1164C>G (p.His388Gln)
c.342C>G (p.His114Gln)
c.870C>G (p.His290Gln)
18g.22992991C>TCA503520900RBBP8c.1164C>T (p.His388=)
c.342C>T (p.His114=)
c.870C>T (p.His290=)
 dbSNP
18g.22992992A>CCA401776725RBBP8c.1165A>C (p.Ser389Arg)
c.343A>C (p.Ser115Arg)
c.871A>C (p.Ser291Arg)
18g.22992992A>GCA401776730RBBP8c.1165A>G (p.Ser389Gly)
c.343A>G (p.Ser115Gly)
c.871A>G (p.Ser291Gly)
18g.22992992A>TCA401776731RBBP8c.1165A>T (p.Ser389Cys)
c.343A>T (p.Ser115Cys)
c.871A>T (p.Ser291Cys)
18g.22992993G>ACA401776733RBBP8c.1166G>A (p.Ser389Asn)
c.344G>A (p.Ser115Asn)
c.872G>A (p.Ser291Asn)
18g.22992993G>CCA401776734RBBP8c.1166G>C (p.Ser389Thr)
c.344G>C (p.Ser115Thr)
c.872G>C (p.Ser291Thr)
18g.22992993G>TCA401776737RBBP8c.1166G>T (p.Ser389Ile)
c.344G>T (p.Ser115Ile)
c.872G>T (p.Ser291Ile)
18g.22992994T>ACA401776739RBBP8c.1167T>A (p.Ser389Arg)
c.345T>A (p.Ser115Arg)
c.873T>A (p.Ser291Arg)
18g.22992994T>CCA8910028RBBP8c.1167T>C (p.Ser389=)
c.345T>C (p.Ser115=)
c.873T>C (p.Ser291=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992994T>GCA401776740RBBP8c.1167T>G (p.Ser389Arg)
c.345T>G (p.Ser115Arg)
c.873T>G (p.Ser291Arg)
18g.22992994T=CA2289916256RBBP8c.1167T= (p.Ser389=)
c.345T= (p.Ser115=)
c.873T= (p.Ser291=)
18g.22992995C>ACA401776741RBBP8c.1168C>A (p.Leu390Ile)
c.346C>A (p.Leu116Ile)
c.874C>A (p.Leu292Ile)
18g.22992995C=CA2289916260RBBP8c.1168C= (p.Leu390=)
c.346C= (p.Leu116=)
c.874C= (p.Leu292=)
18g.22992995C>GCA401776742RBBP8c.1168C>G (p.Leu390Val)
c.346C>G (p.Leu116Val)
c.874C>G (p.Leu292Val)
 gnomAD v4
18g.22992995C>TCA401776744RBBP8c.1168C>T (p.Leu390Phe)
c.346C>T (p.Leu116Phe)
c.874C>T (p.Leu292Phe)
 dbSNP gnomAD v2 gnomAD v4
18g.22992996T>ACA401776759RBBP8c.1169T>A (p.Leu390His)
c.347T>A (p.Leu116His)
c.875T>A (p.Leu292His)
18g.22992996T>CCA401776755RBBP8c.1169T>C (p.Leu390Pro)
c.347T>C (p.Leu116Pro)
c.875T>C (p.Leu292Pro)
 gnomAD v4
18g.22992996T>GCA401776758RBBP8c.1169T>G (p.Leu390Arg)
c.347T>G (p.Leu116Arg)
c.875T>G (p.Leu292Arg)
18g.22992997T>ACA503520903RBBP8c.1170T>A (p.Leu390=)
c.348T>A (p.Leu116=)
c.876T>A (p.Leu292=)
18g.22992997T>CCA503520902RBBP8c.1170T>C (p.Leu390=)
c.348T>C (p.Leu116=)
c.876T>C (p.Leu292=)
18g.22992997T>GCA503520901RBBP8c.1170T>G (p.Leu390=)
c.348T>G (p.Leu116=)
c.876T>G (p.Leu292=)
18g.22992998G>ACA401776762RBBP8c.1171G>A (p.Gly391Arg)
c.349G>A (p.Gly117Arg)
c.877G>A (p.Gly293Arg)
18g.22992998G>CCA401776764RBBP8c.1171G>C (p.Gly391Arg)
c.349G>C (p.Gly117Arg)
c.877G>C (p.Gly293Arg)
 dbSNP
18g.22992998G=CA2289916262RBBP8c.1171G= (p.Gly391=)
c.349G= (p.Gly117=)
c.877G= (p.Gly293=)
18g.22992998G>TCA401776766RBBP8c.1171G>T (p.Gly391Trp)
c.349G>T (p.Gly117Trp)
c.877G>T (p.Gly293Trp)
 gnomAD v4
18g.22992999G>ACA401776768RBBP8c.1172G>A (p.Gly391Glu)
c.350G>A (p.Gly117Glu)
c.878G>A (p.Gly293Glu)
18g.22992999G>CCA401776771RBBP8c.1172G>C (p.Gly391Ala)
c.350G>C (p.Gly117Ala)
c.878G>C (p.Gly293Ala)
18g.22992999G=CA2289916265RBBP8c.1172G= (p.Gly391=)
c.350G= (p.Gly117=)
c.878G= (p.Gly293=)
18g.22992999G>TCA401776774RBBP8c.1172G>T (p.Gly391Val)
c.350G>T (p.Gly117Val)
c.878G>T (p.Gly293Val)
 dbSNP gnomAD v3 gnomAD v4
18g.22993000G>ACA503520904RBBP8c.1173G>A (p.Gly391=)
c.351G>A (p.Gly117=)
c.879G>A (p.Gly293=)
 gnomAD v4
18g.22993000G>CCA503520905RBBP8c.1173G>C (p.Gly391=)
c.351G>C (p.Gly117=)
c.879G>C (p.Gly293=)
18g.22993000G>TCA503520906RBBP8c.1173G>T (p.Gly391=)
c.351G>T (p.Gly117=)
c.879G>T (p.Gly293=)
18g.22993001T>ACA401776777RBBP8c.1174T>A (p.Ser392Thr)
c.352T>A (p.Ser118Thr)
c.880T>A (p.Ser294Thr)
18g.22993001T>CCA401776781RBBP8c.1174T>C (p.Ser392Pro)
c.352T>C (p.Ser118Pro)
c.880T>C (p.Ser294Pro)
18g.22993001T>GCA401776783RBBP8c.1174T>G (p.Ser392Ala)
c.352T>G (p.Ser118Ala)
c.880T>G (p.Ser294Ala)
18g.22993002C>ACA401776785RBBP8c.1175C>A (p.Ser392Tyr)
c.353C>A (p.Ser118Tyr)
c.881C>A (p.Ser294Tyr)
18g.22993002C>GCA401776786RBBP8c.1175C>G (p.Ser392Cys)
c.353C>G (p.Ser118Cys)
c.881C>G (p.Ser294Cys)
18g.22993002C>TCA401776788RBBP8c.1175C>T (p.Ser392Phe)
c.353C>T (p.Ser118Phe)
c.881C>T (p.Ser294Phe)
18g.22993003T>ACA503520907RBBP8c.1176T>A (p.Ser392=)
c.354T>A (p.Ser118=)
c.882T>A (p.Ser294=)
18g.22993003T>CCA503520909RBBP8c.1176T>C (p.Ser392=)
c.354T>C (p.Ser118=)
c.882T>C (p.Ser294=)
18g.22993003T>GCA503520908RBBP8c.1176T>G (p.Ser392=)
c.354T>G (p.Ser118=)
c.882T>G (p.Ser294=)
18g.22993004G>ACA401776794RBBP8c.1177G>A (p.Glu393Lys)
c.355G>A (p.Glu119Lys)
c.883G>A (p.Glu295Lys)
18g.22993004G>CCA401776791RBBP8c.1177G>C (p.Glu393Gln)
c.355G>C (p.Glu119Gln)
c.883G>C (p.Glu295Gln)
 dbSNP gnomAD v2
18g.22993004G=CA2289916267RBBP8c.1177G= (p.Glu393=)
c.355G= (p.Glu119=)
c.883G= (p.Glu295=)
18g.22993004G>TCA401776789RBBP8c.1177G>T (p.Glu393Ter)
c.355G>T (p.Glu119Ter)
c.883G>T (p.Glu295Ter)
18g.22993005A>CCA401776798RBBP8c.1178A>C (p.Glu393Ala)
c.356A>C (p.Glu119Ala)
c.884A>C (p.Glu295Ala)
18g.22993005A>GCA401776801RBBP8c.1178A>G (p.Glu393Gly)
c.356A>G (p.Glu119Gly)
c.884A>G (p.Glu295Gly)
18g.22993005A>TCA401776799RBBP8c.1178A>T (p.Glu393Val)
c.356A>T (p.Glu119Val)
c.884A>T (p.Glu295Val)
18g.22993006A>CCA401776804RBBP8c.1179A>C (p.Glu393Asp)
c.357A>C (p.Glu119Asp)
c.885A>C (p.Glu295Asp)
18g.22993006A>GCA503520910RBBP8c.1179A>G (p.Glu393=)
c.357A>G (p.Glu119=)
c.885A>G (p.Glu295=)
18g.22993006A>TCA401776805RBBP8c.1179A>T (p.Glu393Asp)
c.357A>T (p.Glu119Asp)
c.885A>T (p.Glu295Asp)
18g.22993007G>ACA401776807RBBP8c.1180G>A (p.Val394Met)
c.358G>A (p.Val120Met)
c.886G>A (p.Val296Met)
 COSMIC COSMIC
18g.22993007G>CCA297050851RBBP8c.1180G>C (p.Val394Leu)
c.358G>C (p.Val120Leu)
c.886G>C (p.Val296Leu)
 dbSNP
18g.22993007G=CA2289916271RBBP8c.1180G= (p.Val394=)
c.358G= (p.Val120=)
c.886G= (p.Val296=)
18g.22993007G>TCA401776818RBBP8c.1180G>T (p.Val394Leu)
c.358G>T (p.Val120Leu)
c.886G>T (p.Val296Leu)
18g.22993008T>ACA401776820RBBP8c.1181T>A (p.Val394Glu)
c.359T>A (p.Val120Glu)
c.887T>A (p.Val296Glu)
18g.22993008T>CCA401776822RBBP8c.1181T>C (p.Val394Ala)
c.359T>C (p.Val120Ala)
c.887T>C (p.Val296Ala)
 dbSNP gnomAD v2 gnomAD v4
18g.22993008T>GCA401776823RBBP8c.1181T>G (p.Val394Gly)
c.359T>G (p.Val120Gly)
c.887T>G (p.Val296Gly)
18g.22993008T=CA2289916275RBBP8c.1181T= (p.Val394=)
c.359T= (p.Val120=)
c.887T= (p.Val296=)
18g.22993009G>ACA503520911RBBP8c.1182G>A (p.Val394=)
c.360G>A (p.Val120=)
c.888G>A (p.Val296=)
18g.22993009G>CCA503520912RBBP8c.1182G>C (p.Val394=)
c.360G>C (p.Val120=)
c.888G>C (p.Val296=)
18g.22993009G>TCA503520913RBBP8c.1182G>T (p.Val394=)
c.360G>T (p.Val120=)
c.888G>T (p.Val296=)
18g.22993010A>CCA401776826RBBP8c.1183A>C (p.Asn395His)
c.361A>C (p.Asn121His)
c.889A>C (p.Asn297His)
18g.22993010A>GCA401776827RBBP8c.1183A>G (p.Asn395Asp)
c.361A>G (p.Asn121Asp)
c.889A>G (p.Asn297Asp)
18g.22993010A>TCA401776830RBBP8c.1183A>T (p.Asn395Tyr)
c.361A>T (p.Asn121Tyr)
c.889A>T (p.Asn297Tyr)
18g.22993011A=CA2289916277RBBP8c.1184A= (p.Asn395=)
c.362A= (p.Asn121=)
c.890A= (p.Asn297=)
18g.22993011A>CCA401776833RBBP8c.1184A>C (p.Asn395Thr)
c.362A>C (p.Asn121Thr)
c.890A>C (p.Asn297Thr)
 dbSNP
18g.22993011A>GCA401776832RBBP8c.1184A>G (p.Asn395Ser)
c.362A>G (p.Asn121Ser)
c.890A>G (p.Asn297Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.22993011A>TCA401776831RBBP8c.1184A>T (p.Asn395Ile)
c.362A>T (p.Asn121Ile)
c.890A>T (p.Asn297Ile)
18g.22993012C>ACA401776835RBBP8c.1185C>A (p.Asn395Lys)
c.363C>A (p.Asn121Lys)
c.891C>A (p.Asn297Lys)
18g.22993012C>GCA401776837RBBP8c.1185C>G (p.Asn395Lys)
c.363C>G (p.Asn121Lys)
c.891C>G (p.Asn297Lys)
18g.22993012C>TCA503520914RBBP8c.1185C>T (p.Asn395=)
c.363C>T (p.Asn121=)
c.891C>T (p.Asn297=)
18g.22993013A=CA2289916280RBBP8c.1186A= (p.Lys396=)
c.364A= (p.Lys122=)
c.892A= (p.Lys298=)
18g.22993013A>CCA401776838RBBP8c.1186A>C (p.Lys396Gln)
c.364A>C (p.Lys122Gln)
c.892A>C (p.Lys298Gln)
 dbSNP
18g.22993013A>GCA401776839RBBP8c.1186A>G (p.Lys396Glu)
c.364A>G (p.Lys122Glu)
c.892A>G (p.Lys298Glu)
18g.22993013A>TCA401776841RBBP8c.1186A>T (p.Lys396Ter)
c.364A>T (p.Lys122Ter)
c.892A>T (p.Lys298Ter)
18g.22993014A>CCA401776842RBBP8c.1187A>C (p.Lys396Thr)
c.365A>C (p.Lys122Thr)
c.893A>C (p.Lys298Thr)
 gnomAD v4
18g.22993014A>GCA401776844RBBP8c.1187A>G (p.Lys396Arg)
c.365A>G (p.Lys122Arg)
c.893A>G (p.Lys298Arg)
18g.22993014A>TCA401776846RBBP8c.1187A>T (p.Lys396Met)
c.365A>T (p.Lys122Met)
c.893A>T (p.Lys298Met)
18g.22993015G>ACA503520915RBBP8c.1188G>A (p.Lys396=)
c.366G>A (p.Lys122=)
c.894G>A (p.Lys298=)
18g.22993015G>CCA401776847RBBP8c.1188G>C (p.Lys396Asn)
c.366G>C (p.Lys122Asn)
c.894G>C (p.Lys298Asn)
18g.22993015G>TCA401776849RBBP8c.1188G>T (p.Lys396Asn)
c.366G>T (p.Lys122Asn)
c.894G>T (p.Lys298Asn)
18g.22993015_22993018delinsGATCCA2289916282RBBP8c.1188_1191delinsGATC (p.Lys396=)
c.366_369delinsGATC (p.Lys122=)
c.894_897delinsGATC (p.Lys298=)
18g.22993016A>CCA401776851RBBP8c.1189A>C (p.Ile397Leu)
c.367A>C (p.Ile123Leu)
c.895A>C (p.Ile299Leu)
18g.22993016A>GCA401776852RBBP8c.1189A>G (p.Ile397Val)
c.367A>G (p.Ile123Val)
c.895A>G (p.Ile299Val)
 gnomAD v4
18g.22993016A>TCA401776853RBBP8c.1189A>T (p.Ile397Phe)
c.367A>T (p.Ile123Phe)
c.895A>T (p.Ile299Phe)
18g.22993018_22993020delCA2289916284RBBP8c.1191_1193del (p.Ile398del)
c.369_371del (p.Ile124del)
c.897_899del (p.Ile300del)
 dbSNP
18g.22993017T>ACA401776857RBBP8c.1190T>A (p.Ile397Asn)
c.368T>A (p.Ile123Asn)
c.896T>A (p.Ile299Asn)
18g.22993017T>CCA401776859RBBP8c.1190T>C (p.Ile397Thr)
c.368T>C (p.Ile123Thr)
c.896T>C (p.Ile299Thr)
18g.22993017T>GCA401776855RBBP8c.1190T>G (p.Ile397Ser)
c.368T>G (p.Ile123Ser)
c.896T>G (p.Ile299Ser)
18g.22993018C>ACA503520916RBBP8c.1191C>A (p.Ile397=)
c.369C>A (p.Ile123=)
c.897C>A (p.Ile299=)
18g.22993018C>GCA401776860RBBP8c.1191C>G (p.Ile397Met)
c.369C>G (p.Ile123Met)
c.897C>G (p.Ile299Met)
18g.22993018C>TCA503520917RBBP8c.1191C>T (p.Ile397=)
c.369C>T (p.Ile123=)
c.897C>T (p.Ile299=)
18g.22993019A=CA2289916286RBBP8c.1192A= (p.Ile398=)
c.370A= (p.Ile124=)
c.898A= (p.Ile300=)
18g.22993019A>CCA401776862RBBP8c.1192A>C (p.Ile398Leu)
c.370A>C (p.Ile124Leu)
c.898A>C (p.Ile300Leu)
18g.22993019A>GCA401776865RBBP8c.1192A>G (p.Ile398Val)
c.370A>G (p.Ile124Val)
c.898A>G (p.Ile300Val)
 gnomAD v4
18g.22993019A>TCA401776863RBBP8c.1192A>T (p.Ile398Phe)
c.370A>T (p.Ile124Phe)
c.898A>T (p.Ile300Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.22993020T>ACA401776867RBBP8c.1193T>A (p.Ile398Asn)
c.371T>A (p.Ile124Asn)
c.899T>A (p.Ile300Asn)
 gnomAD v4
18g.22993020T>CCA401776869RBBP8c.1193T>C (p.Ile398Thr)
c.371T>C (p.Ile124Thr)
c.899T>C (p.Ile300Thr)
18g.22993020T>GCA401776868RBBP8c.1193T>G (p.Ile398Ser)
c.371T>G (p.Ile124Ser)
c.899T>G (p.Ile300Ser)
18g.22993021T>ACA503520918RBBP8c.1194T>A (p.Ile398=)
c.372T>A (p.Ile124=)
c.900T>A (p.Ile300=)
18g.22993021T>CCA503520919RBBP8c.1194T>C (p.Ile398=)
c.372T>C (p.Ile124=)
c.900T>C (p.Ile300=)
18g.22993021T>GCA8910029RBBP8c.1194T>G (p.Ile398Met)
c.372T>G (p.Ile124Met)
c.900T>G (p.Ile300Met)
 dbSNP ExAC gnomAD v2
18g.22993021T=CA2289916290RBBP8c.1194T= (p.Ile398=)
c.372T= (p.Ile124=)
c.900T= (p.Ile300=)
18g.22993022A=CA2289916293RBBP8c.1195A= (p.Ile399=)
c.373A= (p.Ile125=)
c.901A= (p.Ile301=)
18g.22993022A>CCA401776873RBBP8c.1195A>C (p.Ile399Leu)
c.373A>C (p.Ile125Leu)
c.901A>C (p.Ile301Leu)
18g.22993022A>GCA297050869RBBP8c.1195A>G (p.Ile399Val)
c.373A>G (p.Ile125Val)
c.901A>G (p.Ile301Val)
 dbSNP
18g.22993022A>TCA401776872RBBP8c.1195A>T (p.Ile399Phe)
c.373A>T (p.Ile125Phe)
c.901A>T (p.Ile301Phe)
18g.22993023T>ACA401776876RBBP8c.1196T>A (p.Ile399Asn)
c.374T>A (p.Ile125Asn)
c.902T>A (p.Ile301Asn)
18g.22993023T>CCA401776877RBBP8c.1196T>C (p.Ile399Thr)
c.374T>C (p.Ile125Thr)
c.902T>C (p.Ile301Thr)
18g.22993023T>GCA401776878RBBP8c.1196T>G (p.Ile399Ser)
c.374T>G (p.Ile125Ser)
c.902T>G (p.Ile301Ser)
18g.22993024C>ACA503520920RBBP8c.1197C>A (p.Ile399=)
c.375C>A (p.Ile125=)
c.903C>A (p.Ile301=)
18g.22993024C=CA2289916296RBBP8c.1197C= (p.Ile399=)
c.375C= (p.Ile125=)
c.903C= (p.Ile301=)
18g.22993024C>GCA401776880RBBP8c.1197C>G (p.Ile399Met)
c.375C>G (p.Ile125Met)
c.903C>G (p.Ile301Met)
18g.22993024C>TCA297050871RBBP8c.1197C>T (p.Ile399=)
c.375C>T (p.Ile125=)
c.903C>T (p.Ile301=)
 dbSNP
18g.22993025C>ACA401776882RBBP8c.1198C>A (p.Gln400Lys)
c.376C>A (p.Gln126Lys)
c.904C>A (p.Gln302Lys)
18g.22993025C>GCA401776884RBBP8c.1198C>G (p.Gln400Glu)
c.376C>G (p.Gln126Glu)
c.904C>G (p.Gln302Glu)
18g.22993025C>TCA401776886RBBP8c.1198C>T (p.Gln400Ter)
c.376C>T (p.Gln126Ter)
c.904C>T (p.Gln302Ter)
18g.22993026A>CCA401776887RBBP8c.1199A>C (p.Gln400Pro)
c.377A>C (p.Gln126Pro)
c.905A>C (p.Gln302Pro)
18g.22993026A>GCA401776888RBBP8c.1199A>G (p.Gln400Arg)
c.377A>G (p.Gln126Arg)
c.905A>G (p.Gln302Arg)
 gnomAD v4
18g.22993026A>TCA401776889RBBP8c.1199A>T (p.Gln400Leu)
c.377A>T (p.Gln126Leu)
c.905A>T (p.Gln302Leu)
18g.22993027G>ACA503520921RBBP8c.1200G>A (p.Gln400=)
c.378G>A (p.Gln126=)
c.906G>A (p.Gln302=)
18g.22993027G>CCA401776890RBBP8c.1200G>C (p.Gln400His)
c.378G>C (p.Gln126His)
c.906G>C (p.Gln302His)
18g.22993027G>TCA401776891RBBP8c.1200G>T (p.Gln400His)
c.378G>T (p.Gln126His)
c.906G>T (p.Gln302His)
18g.22993028T>ACA401776892RBBP8c.1201T>A (p.Ser401Thr)
c.379T>A (p.Ser127Thr)
c.907T>A (p.Ser303Thr)
18g.22993028T>CCA401776893RBBP8c.1201T>C (p.Ser401Pro)
c.379T>C (p.Ser127Pro)
c.907T>C (p.Ser303Pro)
18g.22993028T>GCA401776894RBBP8c.1201T>G (p.Ser401Ala)
c.379T>G (p.Ser127Ala)
c.907T>G (p.Ser303Ala)
18g.22993029C>ACA401776895RBBP8c.1202C>A (p.Ser401Ter)
c.380C>A (p.Ser127Ter)
c.908C>A (p.Ser303Ter)
 gnomAD v4
18g.22993029C>GCA401776896RBBP8c.1202C>G (p.Ser401Ter)
c.380C>G (p.Ser127Ter)
c.908C>G (p.Ser303Ter)
18g.22993029C>TCA401776897RBBP8c.1202C>T (p.Ser401Leu)
c.380C>T (p.Ser127Leu)
c.908C>T (p.Ser303Leu)
18g.22993030A=CA2289916298RBBP8c.1203A= (p.Ser401=)
c.381A= (p.Ser127=)
c.909A= (p.Ser303=)
18g.22993030A>CCA503520922RBBP8c.1203A>C (p.Ser401=)
c.381A>C (p.Ser127=)
c.909A>C (p.Ser303=)
18g.22993030A>GCA503520923RBBP8c.1203A>G (p.Ser401=)
c.381A>G (p.Ser127=)
c.909A>G (p.Ser303=)
 gnomAD v4
18g.22993030A>TCA8910030RBBP8c.1203A>T (p.Ser401=)
c.381A>T (p.Ser127=)
c.909A>T (p.Ser303=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22993031T>ACA401776898RBBP8c.1204T>A (p.Ser402Thr)
c.382T>A (p.Ser128Thr)
c.910T>A (p.Ser304Thr)
18g.22993031T>CCA401776899RBBP8c.1204T>C (p.Ser402Pro)
c.382T>C (p.Ser128Pro)
c.910T>C (p.Ser304Pro)
18g.22993031T>GCA401776900RBBP8c.1204T>G (p.Ser402Ala)
c.382T>G (p.Ser128Ala)
c.910T>G (p.Ser304Ala)
18g.22993032C>ACA8910031RBBP8c.1205C>A (p.Ser402Tyr)
c.383C>A (p.Ser128Tyr)
c.911C>A (p.Ser304Tyr)
 dbSNP ExAC gnomAD v2
18g.22993032C=CA2289916301RBBP8c.1205C= (p.Ser402=)
c.383C= (p.Ser128=)
c.911C= (p.Ser304=)
18g.22993032C>GCA401776902RBBP8c.1205C>G (p.Ser402Cys)
c.383C>G (p.Ser128Cys)
c.911C>G (p.Ser304Cys)
 dbSNP gnomAD v3 gnomAD v4
18g.22993032C>TCA401776901RBBP8c.1205C>T (p.Ser402Phe)
c.383C>T (p.Ser128Phe)
c.911C>T (p.Ser304Phe)
18g.22993033T>ACA503520925RBBP8c.1206T>A (p.Ser402=)
c.384T>A (p.Ser128=)
c.912T>A (p.Ser304=)
18g.22993033T>CCA503520926RBBP8c.1206T>C (p.Ser402=)
c.384T>C (p.Ser128=)
c.912T>C (p.Ser304=)
18g.22993033T>GCA503520924RBBP8c.1206T>G (p.Ser402=)
c.384T>G (p.Ser128=)
c.912T>G (p.Ser304=)
18g.22993034A>CCA401776903RBBP8c.1207A>C (p.Asn403His)
c.385A>C (p.Asn129His)
c.913A>C (p.Asn305His)
18g.22993034A>GCA401776904RBBP8c.1207A>G (p.Asn403Asp)
c.385A>G (p.Asn129Asp)
c.913A>G (p.Asn305Asp)
18g.22993034A>TCA401776905RBBP8c.1207A>T (p.Asn403Tyr)
c.385A>T (p.Asn129Tyr)
c.913A>T (p.Asn305Tyr)
18g.22993035A=CA2289916303RBBP8c.1208A= (p.Asn403=)
c.386A= (p.Asn129=)
c.914A= (p.Asn305=)
18g.22993035A>CCA401776906RBBP8c.1208A>C (p.Asn403Thr)
c.386A>C (p.Asn129Thr)
c.914A>C (p.Asn305Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.22993035A>GCA401776907RBBP8c.1208A>G (p.Asn403Ser)
c.386A>G (p.Asn129Ser)
c.914A>G (p.Asn305Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.22993035A>TCA401776908RBBP8c.1208A>T (p.Asn403Ile)
c.386A>T (p.Asn129Ile)
c.914A>T (p.Asn305Ile)
18g.22993036T>ACA401776909RBBP8c.1209T>A (p.Asn403Lys)
c.387T>A (p.Asn129Lys)
c.915T>A (p.Asn305Lys)
18g.22993036T>CCA503520927RBBP8c.1209T>C (p.Asn403=)
c.387T>C (p.Asn129=)
c.915T>C (p.Asn305=)
18g.22993036T>GCA401776910RBBP8c.1209T>G (p.Asn403Lys)
c.387T>G (p.Asn129Lys)
c.915T>G (p.Asn305Lys)
18g.22993037A>CCA401776911RBBP8c.1210A>C (p.Lys404Gln)
c.388A>C (p.Lys130Gln)
c.916A>C (p.Lys306Gln)
18g.22993037A>GCA401776912RBBP8c.1210A>G (p.Lys404Glu)
c.388A>G (p.Lys130Glu)
c.916A>G (p.Lys306Glu)
18g.22993037A>TCA401776913RBBP8c.1210A>T (p.Lys404Ter)
c.388A>T (p.Lys130Ter)
c.916A>T (p.Lys306Ter)
18g.22993038A>CCA401776916RBBP8c.1211A>C (p.Lys404Thr)
c.389A>C (p.Lys130Thr)
c.917A>C (p.Lys306Thr)
18g.22993038A>GCA401776915RBBP8c.1211A>G (p.Lys404Arg)
c.389A>G (p.Lys130Arg)
c.917A>G (p.Lys306Arg)
18g.22993038A>TCA401776914RBBP8c.1211A>T (p.Lys404Ile)
c.389A>T (p.Lys130Ile)
c.917A>T (p.Lys306Ile)
18g.22993039A=CA2289916307RBBP8c.1212A= (p.Lys404=)
c.390A= (p.Lys130=)
c.918A= (p.Lys306=)
18g.22993039A>CCA401776917RBBP8c.1212A>C (p.Lys404Asn)
c.390A>C (p.Lys130Asn)
c.918A>C (p.Lys306Asn)
18g.22993039A>GCA503520929RBBP8c.1212A>G (p.Lys404=)
c.390A>G (p.Lys130=)
c.918A>G (p.Lys306=)
 dbSNP gnomAD v4
18g.22993039A>TCA401776918RBBP8c.1212A>T (p.Lys404Asn)
c.390A>T (p.Lys130Asn)
c.918A>T (p.Lys306Asn)
18g.22993040C>ACA401776919RBBP8c.1213C>A (p.Gln405Lys)
c.391C>A (p.Gln131Lys)
c.919C>A (p.Gln307Lys)
18g.22993040C>GCA401776920RBBP8c.1213C>G (p.Gln405Glu)
c.391C>G (p.Gln131Glu)
c.919C>G (p.Gln307Glu)
18g.22993040C>TCA401776921RBBP8c.1213C>T (p.Gln405Ter)
c.391C>T (p.Gln131Ter)
c.919C>T (p.Gln307Ter)
 gnomAD v4
18g.22993041A>CCA401776922RBBP8c.1214A>C (p.Gln405Pro)
c.392A>C (p.Gln131Pro)
c.920A>C (p.Gln307Pro)
18g.22993041A>GCA401776923RBBP8c.1214A>G (p.Gln405Arg)
c.392A>G (p.Gln131Arg)
c.920A>G (p.Gln307Arg)
18g.22993041A>TCA401776924RBBP8c.1214A>T (p.Gln405Leu)
c.392A>T (p.Gln131Leu)
c.920A>T (p.Gln307Leu)
18g.22993042G>ACA503520931RBBP8c.1215G>A (p.Gln405=)
c.393G>A (p.Gln131=)
c.921G>A (p.Gln307=)
18g.22993042G>CCA401776925RBBP8c.1215G>C (p.Gln405His)
c.393G>C (p.Gln131His)
c.921G>C (p.Gln307His)
18g.22993042G>TCA401776926RBBP8c.1215G>T (p.Gln405His)
c.393G>T (p.Gln131His)
c.921G>T (p.Gln307His)
18g.22993043A=CA2289916309RBBP8c.1216A= (p.Ile406=)
c.394A= (p.Ile132=)
c.922A= (p.Ile308=)
18g.22993043A>CCA401776927RBBP8c.1216A>C (p.Ile406Leu)
c.394A>C (p.Ile132Leu)
c.922A>C (p.Ile308Leu)
18g.22993043A>GCA401776928RBBP8c.1216A>G (p.Ile406Val)
c.394A>G (p.Ile132Val)
c.922A>G (p.Ile308Val)
 dbSNP gnomAD v4
18g.22993043A>TCA401776929RBBP8c.1216A>T (p.Ile406Leu)
c.394A>T (p.Ile132Leu)
c.922A>T (p.Ile308Leu)
 gnomAD v4
18g.22993044T>ACA401776931RBBP8c.1217T>A (p.Ile406Lys)
c.395T>A (p.Ile132Lys)
c.923T>A (p.Ile308Lys)
18g.22993044T>CCA401776932RBBP8c.1217T>C (p.Ile406Thr)
c.395T>C (p.Ile132Thr)
c.923T>C (p.Ile308Thr)
18g.22993044T>GCA401776930RBBP8c.1217T>G (p.Ile406Arg)
c.395T>G (p.Ile132Arg)
c.923T>G (p.Ile308Arg)
18g.22993046_22993049delCA2641247342RBBP8c.1219_1222del (p.Leu407Ter)
c.397_400del (p.Leu133Ter)
c.925_928del (p.Leu309Ter)
 gnomAD v4
18g.22993045A=CA2289916311RBBP8c.1218A= (p.Ile406=)
c.396A= (p.Ile132=)
c.924A= (p.Ile308=)
18g.22993045A>CCA503520934RBBP8c.1218A>C (p.Ile406=)
c.396A>C (p.Ile132=)
c.924A>C (p.Ile308=)
18g.22993045A>GCA401776933RBBP8c.1218A>G (p.Ile406Met)
c.396A>G (p.Ile132Met)
c.924A>G (p.Ile308Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.22993045A>TCA503520936RBBP8c.1218A>T (p.Ile406=)
c.396A>T (p.Ile132=)
c.924A>T (p.Ile308=)
18g.22993046C>ACA401776934RBBP8c.1219C>A (p.Leu407Ile)
c.397C>A (p.Leu133Ile)
c.925C>A (p.Leu309Ile)
18g.22993046C=CA2289916314RBBP8c.1219C= (p.Leu407=)
c.397C= (p.Leu133=)
c.925C= (p.Leu309=)
18g.22993046C>GCA401776935RBBP8c.1219C>G (p.Leu407Val)
c.397C>G (p.Leu133Val)
c.925C>G (p.Leu309Val)
18g.22993046C>TCA8910032RBBP8c.1219C>T (p.Leu407Phe)
c.397C>T (p.Leu133Phe)
c.925C>T (p.Leu309Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22993047T>ACA401776936RBBP8c.1220T>A (p.Leu407His)
c.398T>A (p.Leu133His)
c.926T>A (p.Leu309His)
18g.22993047T>CCA401776937RBBP8c.1220T>C (p.Leu407Pro)
c.398T>C (p.Leu133Pro)
c.926T>C (p.Leu309Pro)
18g.22993047T>GCA401776938RBBP8c.1220T>G (p.Leu407Arg)
c.398T>G (p.Leu133Arg)
c.926T>G (p.Leu309Arg)
18g.22993047_22993053delinsTTATAAACA2289916316RBBP8c.1220_1226delinsTTATAAA (p.Leu407=)
c.398_404delinsTTATAAA (p.Leu133=)
c.926_932delinsTTATAAA (p.Leu309=)
18g.22993048T>ACA503520940RBBP8c.1221T>A (p.Leu407=)
c.399T>A (p.Leu133=)
c.927T>A (p.Leu309=)
18g.22993048T>CCA503520941RBBP8c.1221T>C (p.Leu407=)
c.399T>C (p.Leu133=)
c.927T>C (p.Leu309=)
18g.22993048T>GCA503520942RBBP8c.1221T>G (p.Leu407=)
c.399T>G (p.Leu133=)
c.927T>G (p.Leu309=)
18g.22993050_22993055delCA8910033RBBP8c.1223_1228del (p.Ile408_Asn409del)
c.401_406del (p.Ile134_Asn135del)
c.929_934del (p.Ile310_Asn311del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22993049A=CA2289916320RBBP8c.1222A= (p.Ile408=)
c.400A= (p.Ile134=)
c.928A= (p.Ile310=)
18g.22993049A>CCA401776939RBBP8c.1222A>C (p.Ile408Leu)
c.400A>C (p.Ile134Leu)
c.928A>C (p.Ile310Leu)
18g.22993049A>GCA401776940RBBP8c.1222A>G (p.Ile408Val)
c.400A>G (p.Ile134Val)
c.928A>G (p.Ile310Val)
18g.22993049A>TCA8910034RBBP8c.1222A>T (p.Ile408Leu)
c.400A>T (p.Ile134Leu)
c.928A>T (p.Ile310Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22993050T>ACA401776943RBBP8c.1223T>A (p.Ile408Lys)
c.401T>A (p.Ile134Lys)
c.929T>A (p.Ile310Lys)
18g.22993050T>CCA401776942RBBP8c.1223T>C (p.Ile408Thr)
c.401T>C (p.Ile134Thr)
c.929T>C (p.Ile310Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.22993050T>GCA401776941RBBP8c.1223T>G (p.Ile408Arg)
c.401T>G (p.Ile134Arg)
c.929T>G (p.Ile310Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.22993050T=CA2289916322RBBP8c.1223T= (p.Ile408=)
c.401T= (p.Ile134=)
c.929T= (p.Ile310=)
18g.22993051A>CCA503520946RBBP8c.1224A>C (p.Ile408=)
c.402A>C (p.Ile134=)
c.930A>C (p.Ile310=)
18g.22993051A>GCA401776944RBBP8c.1224A>G (p.Ile408Met)
c.402A>G (p.Ile134Met)
c.930A>G (p.Ile310Met)
 gnomAD v4
18g.22993051A>TCA503520949RBBP8c.1224A>T (p.Ile408=)
c.402A>T (p.Ile134=)
c.930A>T (p.Ile310=)
18g.22993051_22993052insTTTTTCA2641247343RBBP8c.1224_1225insTTTTT (p.Asn409PhefsTer6)
c.402_403insTTTTT (p.Asn135PhefsTer6)
c.930_931insTTTTT (p.Asn311PhefsTer6)
 gnomAD v4
18g.22993052A>CCA401776945RBBP8c.1225A>C (p.Asn409His)
c.403A>C (p.Asn135His)
c.931A>C (p.Asn311His)
 dbSNP gnomAD v4
18g.22993052A>GCA401776946RBBP8c.1225A>G (p.Asn409Asp)
c.403A>G (p.Asn135Asp)
c.931A>G (p.Asn311Asp)
18g.22993052A>TCA401776947RBBP8c.1225A>T (p.Asn409Tyr)
c.403A>T (p.Asn135Tyr)
c.931A>T (p.Asn311Tyr)
18g.22993053A>CCA401776948RBBP8c.1226A>C (p.Asn409Thr)
c.404A>C (p.Asn135Thr)
c.932A>C (p.Asn311Thr)
18g.22993053A>GCA401776949RBBP8c.1226A>G (p.Asn409Ser)
c.404A>G (p.Asn135Ser)
c.932A>G (p.Asn311Ser)
 gnomAD v4
18g.22993053A>TCA401776950RBBP8c.1226A>T (p.Asn409Ile)
c.404A>T (p.Asn135Ile)
c.932A>T (p.Asn311Ile)
 gnomAD v4
18g.22993054T>ACA401776951RBBP8c.1227T>A (p.Asn409Lys)
c.405T>A (p.Asn135Lys)
c.933T>A (p.Asn311Lys)
18g.22993054T>CCA503520952RBBP8c.1227T>C (p.Asn409=)
c.405T>C (p.Asn135=)
c.933T>C (p.Asn311=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.22993054T>GCA401776952RBBP8c.1227T>G (p.Asn409Lys)
c.405T>G (p.Asn135Lys)
c.933T>G (p.Asn311Lys)
18g.22993054T=CA2289916324RBBP8c.1227T= (p.Asn409=)
c.405T= (p.Asn135=)
c.933T= (p.Asn311=)
18g.22993054_22993058delinsTAAAACA2289916323RBBP8c.1227_1231delinsTAAAA (p.Asn409=)
c.405_409delinsTAAAA (p.Asn135=)
c.933_937delinsTAAAA (p.Asn311=)
18g.22993055A>CCA401776953RBBP8c.1228A>C (p.Lys410Gln)
c.406A>C (p.Lys136Gln)
c.934A>C (p.Lys312Gln)
18g.22993055A>GCA401776954RBBP8c.1228A>G (p.Lys410Glu)
c.406A>G (p.Lys136Glu)
c.934A>G (p.Lys312Glu)
18g.22993055A>TCA401776955RBBP8c.1228A>T (p.Lys410Ter)
c.406A>T (p.Lys136Ter)
c.934A>T (p.Lys312Ter)
18g.22993055_22993059delCA2641247344RBBP8c.1228_1232del (p.Lys410TyrfsTer3)
c.406_410del (p.Lys136TyrfsTer3)
c.934_938del (p.Lys312TyrfsTer3)
 gnomAD v4
18g.22993056_22993059delCA8910035RBBP8c.1229_1232del (p.Lys410IlefsTer2)
c.407_410del (p.Lys136IlefsTer2)
c.935_938del (p.Lys312IlefsTer2)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22993056A>CCA401776957RBBP8c.1229A>C (p.Lys410Thr)
c.407A>C (p.Lys136Thr)
c.935A>C (p.Lys312Thr)
18g.22993056A>GCA401776958RBBP8c.1229A>G (p.Lys410Arg)
c.407A>G (p.Lys136Arg)
c.935A>G (p.Lys312Arg)
18g.22993056A>TCA401776956RBBP8c.1229A>T (p.Lys410Ile)
c.407A>T (p.Lys136Ile)
c.935A>T (p.Lys312Ile)
18g.22993057A=CA2289916327RBBP8c.1230A= (p.Lys410=)
c.408A= (p.Lys136=)
c.936A= (p.Lys312=)
18g.22993057A>CCA401776959RBBP8c.1230A>C (p.Lys410Asn)
c.408A>C (p.Lys136Asn)
c.936A>C (p.Lys312Asn)
18g.22993057A>GCA503520955RBBP8c.1230A>G (p.Lys410=)
c.408A>G (p.Lys136=)
c.936A>G (p.Lys312=)
18g.22993057A>TCA401776960RBBP8c.1230A>T (p.Lys410Asn)
c.408A>T (p.Lys136Asn)
c.936A>T (p.Lys312Asn)
 dbSNP gnomAD v2 gnomAD v4
18g.22993058A>CCA401776961RBBP8c.1231A>C (p.Asn411His)
c.409A>C (p.Asn137His)
c.937A>C (p.Asn313His)
18g.22993058A>GCA401776962RBBP8c.1231A>G (p.Asn411Asp)
c.409A>G (p.Asn137Asp)
c.937A>G (p.Asn313Asp)
18g.22993058A>TCA401776963RBBP8c.1231A>T (p.Asn411Tyr)
c.409A>T (p.Asn137Tyr)
c.937A>T (p.Asn313Tyr)
18g.22993058_22993059insCCAAACACACCCAACACCA2811798423RBBP8c.1231_1232insCCAAACACACCCAACAC (p.Asn411ThrfsTer8)
c.409_410insCCAAACACACCCAACAC (p.Asn137ThrfsTer8)
c.937_938insCCAAACACACCCAACAC (p.Asn313ThrfsTer8)
18g.22993059A=CA2289916329RBBP8c.1232A= (p.Asn411=)
c.410A= (p.Asn137=)
c.938A= (p.Asn313=)
18g.22993059A>CCA401776964RBBP8c.1232A>C (p.Asn411Thr)
c.410A>C (p.Asn137Thr)
c.938A>C (p.Asn313Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.22993059A>GCA401776965RBBP8c.1232A>G (p.Asn411Ser)
c.410A>G (p.Asn137Ser)
c.938A>G (p.Asn313Ser)
 gnomAD v4
18g.22993059A>TCA401776966RBBP8c.1232A>T (p.Asn411Ile)
c.410A>T (p.Asn137Ile)
c.938A>T (p.Asn313Ile)
18g.22993060T>ACA401776967RBBP8c.1233T>A (p.Asn411Lys)
c.411T>A (p.Asn137Lys)
c.939T>A (p.Asn313Lys)
18g.22993060T>CCA503520957RBBP8c.1233T>C (p.Asn411=)
c.411T>C (p.Asn137=)
c.939T>C (p.Asn313=)
18g.22993060T>GCA401776968RBBP8c.1233T>G (p.Asn411Lys)
c.411T>G (p.Asn137Lys)
c.939T>G (p.Asn313Lys)
18g.22993061A=CA2289916331RBBP8c.1234A= (p.Ile412=)
c.412A= (p.Ile138=)
c.940A= (p.Ile314=)
18g.22993061A>CCA401776969RBBP8c.1234A>C (p.Ile412Leu)
c.412A>C (p.Ile138Leu)
c.940A>C (p.Ile314Leu)
18g.22993061A>GCA401776970RBBP8c.1234A>G (p.Ile412Val)
c.412A>G (p.Ile138Val)
c.940A>G (p.Ile314Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.22993061A>TCA401776971RBBP8c.1234A>T (p.Ile412Leu)
c.412A>T (p.Ile138Leu)
c.940A>T (p.Ile314Leu)
18g.22993062T>ACA401776974RBBP8c.1235T>A (p.Ile412Lys)
c.413T>A (p.Ile138Lys)
c.941T>A (p.Ile314Lys)
18g.22993062T>CCA8910036RBBP8c.1235T>C (p.Ile412Thr)
c.413T>C (p.Ile138Thr)
c.941T>C (p.Ile314Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22993062T>GCA401776972RBBP8c.1235T>G (p.Ile412Arg)
c.413T>G (p.Ile138Arg)
c.941T>G (p.Ile314Arg)
 gnomAD v4
18g.22993062T=CA2289916333RBBP8c.1235T= (p.Ile412=)
c.413T= (p.Ile138=)
c.941T= (p.Ile314=)
18g.22993063A>CCA503520962RBBP8c.1236A>C (p.Ile412=)
c.414A>C (p.Ile138=)
c.942A>C (p.Ile314=)
18g.22993063A>GCA401776976RBBP8c.1236A>G (p.Ile412Met)
c.414A>G (p.Ile138Met)
c.942A>G (p.Ile314Met)
18g.22993063A>TCA503520960RBBP8c.1236A>T (p.Ile412=)
c.414A>T (p.Ile138=)
c.942A>T (p.Ile314=)
18g.22993064A>CCA401776978RBBP8c.1237A>C (p.Ser413Arg)
c.415A>C (p.Ser139Arg)
c.943A>C (p.Ser315Arg)
18g.22993064A>GCA401776979RBBP8c.1237A>G (p.Ser413Gly)
c.415A>G (p.Ser139Gly)
c.943A>G (p.Ser315Gly)
18g.22993064A>TCA401776980RBBP8c.1237A>T (p.Ser413Cys)
c.415A>T (p.Ser139Cys)
c.943A>T (p.Ser315Cys)
18g.22993065G>ACA401776982RBBP8c.1238G>A (p.Ser413Asn)
c.416G>A (p.Ser139Asn)
c.944G>A (p.Ser315Asn)
 dbSNP
18g.22993065G>CCA401776984RBBP8c.1238G>C (p.Ser413Thr)
c.416G>C (p.Ser139Thr)
c.944G>C (p.Ser315Thr)
 gnomAD v4
18g.22993065G=CA2289916334RBBP8c.1238G= (p.Ser413=)
c.416G= (p.Ser139=)
c.944G= (p.Ser315=)
18g.22993065G>TCA401776985RBBP8c.1238G>T (p.Ser413Ile)
c.416G>T (p.Ser139Ile)
c.944G>T (p.Ser315Ile)
18g.22993066T>ACA401776987RBBP8c.1239T>A (p.Ser413Arg)
c.417T>A (p.Ser139Arg)
c.945T>A (p.Ser315Arg)
18g.22993066T>CCA8910037RBBP8c.1239T>C (p.Ser413=)
c.417T>C (p.Ser139=)
c.945T>C (p.Ser315=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22993066T>GCA401776989RBBP8c.1239T>G (p.Ser413Arg)
c.417T>G (p.Ser139Arg)
c.945T>G (p.Ser315Arg)
18g.22993066T=CA2289916336RBBP8c.1239T= (p.Ser413=)
c.417T= (p.Ser139=)
c.945T= (p.Ser315=)
18g.22993067G>ACA401776991RBBP8c.1240G>A (p.Glu414Lys)
c.418G>A (p.Glu140Lys)
c.946G>A (p.Glu316Lys)
18g.22993067G>CCA401776992RBBP8c.1240G>C (p.Glu414Gln)
c.418G>C (p.Glu140Gln)
c.946G>C (p.Glu316Gln)
18g.22993067G=CA2289916337RBBP8c.1240G= (p.Glu414=)
c.418G= (p.Glu140=)
c.946G= (p.Glu316=)
18g.22993067G>TCA401776994RBBP8c.1240G>T (p.Glu414Ter)
c.418G>T (p.Glu140Ter)
c.946G>T (p.Glu316Ter)
 dbSNP gnomAD v2 gnomAD v4
18g.22993068A>CCA401776999RBBP8c.1241A>C (p.Glu414Ala)
c.419A>C (p.Glu140Ala)
c.947A>C (p.Glu316Ala)
 gnomAD v4
18g.22993068A>GCA401776997RBBP8c.1241A>G (p.Glu414Gly)
c.419A>G (p.Glu140Gly)
c.947A>G (p.Glu316Gly)
18g.22993068A>TCA401776996RBBP8c.1241A>T (p.Glu414Val)
c.419A>T (p.Glu140Val)
c.947A>T (p.Glu316Val)

Number of alleles fetched